Symbol: Name: ID: |
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit GFS:3406 |
Gene name: | CACNA1S |
Chromosome: | 1q32 |
Previous Symbols: | HOKPP, MHS5, CACNL1A3 |
Previous Names: | |
Aliases: | Cav1.1, hypoPP |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:88294 | Rat Genome Database ID: | |
HGNC ID: | HGNC:1397 | RefSeq IDs: | NM_000069 |
Entrez Gene ID: | 779 | Ensembl Gene ID: | ENSG00000081248 |
VEGA IDs: | OTTHUMG00000035784 | UniProt ID: | Q13698 |
UCSC ID: | uc001gvv.2 | OMIM ID: | 114208 |
Pubmed: | PMID7916735 PMID 16382099 | ||
CCDS IDs: | CCDSCCDS1407.1 |
Cav1.1 also known as the calcium channel, voltage-dependent, L type, alpha 1S subunit, (CACNA1S), is a protein which in humans is encoded by the CACNA1S gene.
This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1S gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle.
Products for CACNA1S gene
Catalog | Product Name | Application | Company |
GFS:E03406 | calcium channel, voltage-dependent, L type, alpha 1S subunit; ELISA kit | ELISA | n/a |
GFS:A03406 | calcium channel, voltage-dependent, L type, alpha 1S subunit; Anti | ANTIBODIES | n/a |
GFS:P03406 | calcium channel, voltage-dependent, L type, alpha 1S subunit; Protien | Protien | n/a |